A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2136591



Internal ID17423639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15682273..15685174hg38UCSC Ensembl
Innerchr19:15793083..15795984hg19UCSC Ensembl
Innerchr19:15654083..15656984hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382902
hg192902
hg182902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978781
Supporting Variants
SamplesHGDP00542
Known GenesCYP4F12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2136591
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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